Rie Seyama

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 41 citations · Full text

Whole exome sequencing of fetal structural anomalies detected by ultrasonography

Hiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki et al. · Journal of Human Genetics · 2020 · 28 citations

Developmental Anomaly, Sequencing, Developmental Biology +8

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

Rie Seyama, Naomi Tsuchida, Y. Okada et al. · Journal of Human Genetics · 2021 · 27 citations

Neurodevelopmental Disorders, Neurodevelopmental Delay, Developmental Anomaly +12

Biallelic structural variations within<i>FGF12</i>detected by long-read sequencing in epilepsy

Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka et al. · Life Science Alliance · 2023 · 17 citations · Full text

Retrospective study of the recurrence risk of preterm birth in Japan

Rie Seyama, Shintaro Makino, Shuko Nojiri et al. · The Journal of Maternal-Fetal & Neonatal Medicine · 2020 · 15 citations